Canonical Allele Identifier: CA399596298
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 2169685
ClinVar RCV Id: RCV003084956 RCV003138513
dbSNP Id: rs1449437603
gnomAD v2: 17-40688652-T-C
gnomAD v3: 17-42536634-T-C
gnomAD v4: 17-42536634-T-C
MyVariant Identifiers: chr17:g.40688652T>C (hg19) chr17:g.42536634T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536634T>C , CM000679.2:g.42536634T>C GRCh38
NC_000017.10:g.40688652T>C , CM000679.1:g.40688652T>C GRCh37
NC_000017.9:g.37942178T>C NCBI36
NG_011552.1:g.5702T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.362T>C MANE Select ENSP00000225927.1:p.Leu121Pro
ENST00000225927.6:c.362T>C ENSP00000225927.1:p.Leu121Pro
ENST00000586516.5:c.112T>C
ENST00000591587.1:c.105T>C ENSP00000467836.1:p.Ala35=
NM_000263.3:c.362T>C NP_000254.2:p.Leu121Pro
XM_006721920.2:c.-381T>C XP_006721983.1:n.-381T>C
XM_011524840.1:c.-381T>C XP_011523142.1:n.-381T>C
XM_024450771.1:c.362T>C XP_024306539.1:p.Leu121Pro
NM_000263.4:c.362T>C MANE Select NP_000254.2:p.Leu121Pro
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